Canonical Allele Identifier: CA10654959
Gene:

Linked Data

dbSNP Id: rs3131972
gnomAD v2: 1-752721-A-G
gnomAD v3: 1-817341-A-G
gnomAD v4: 1-817341-A-G
MyVariant Identifiers: chr1:g.752721A>G (hg19) chr1:g.817341A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817341A>G , CM000663.2:g.817341A>G GRCh38
NC_000001.10:g.752721A>G , CM000663.1:g.752721A>G GRCh37
NC_000001.9:g.742584A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000634337.2:n.127+10329T>C
ENST00000635509.2:n.100+10329T>C
ENST00000447500.4:n.340+32T>C
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